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At least 307 records · Page 17Linked to original sources
PubMed2003

Interleukin-1B (IL-1B) and interleukin-1 receptor antagonist (IL-1RN) gene polymorphisms are not associated with tubal pathology and Chlamydia trachomatis-related tubal factor subfertility.

BACKGROUND: Chlamydia trachomatis infections have been associated with tubal pathology. However, not all C.trachomatis-infected women actually develop tubal pathology. Recently, host genetic factors such as the interleukin-1 gene cluster have been linked to inflammatory and infectious diseases. METHODS: Dutch Caucasian women were investigated for (i) the role of interleukin-1B (IL-1B) and interleukin-1 receptor antagonist (IL-1RN) gene polymorphisms in tubal pathology (group 1); and (ii) the presence of these gene polymorphisms in C.trachomatis IgG-positive women with and without tubal pathology (group 2). Group 1 consisted of women with (n = 40) or without (n = 95) tubal pathology, respectively, and group 2 of C.trachomatis IgG-positive women of whom 28 had tubal pathology at laparoscopy and 47 did not. IL-1B-511 and IL-1B+3954 gene polymorphisms were assessed by PCR-restriction fragment length polymorphism (RFLP), and the variable number of tandem repeats (VNTR) of the IL-1RN gene were assessed by a PCR-based assay. RESULTS: Neither IL-1B-511, IL-1B+3954 nor IL-1RN genotypes, allele or carrier frequencies showed significant association with tubal pathology or C.trachomatis post-infection-based tubal pathology. CONCLUSIONS: The data obtained suggest that specific IL-1 gene polymorphisms are not associated with the tubal pathology risk or to the development of C.trachomatis-based post-infectious severe sequelae.

Adult↗
PubMed1996

Angiotensin-converting enzyme gene polymorphism in essential hypertensive patients in Japanese population.

Association between angiotensin-converting enzyme (ACE) gene polymorphism and essential hypertension in a Japanese population with the same socioeconomic background was investigated. Insertion-deletion (I/D) polymorphism of the ACE gene located on intron 16 was detected by polymerase chain reaction. Association between ACE gene polymorphism and family history of essential hypertension as well as the development of vascular damage in eye fundi were also investigated. Variation at ACE loci did not contribute to essential hypertension and the vascular damages in eye fundi. These results suggest that the ACE gene was not directly responsible for essential hypertension in this particular Japanese population with the same socioeconomic background.

Adult↗
PubMed2006

Vitamin D receptor gene polymorphism in rheumatoid arthritis and associated osteoporosis.

Rheumatoid arthritis (RA) is commonly associated with decreased bone mineral density (BMD) due to numerous factors. BsmI polymorphism of the vitamin D receptor (VDR) gene has been implicated in the pathogenesis of osteoporosis. Vitamin D has several immunomodulatory effects and thus may play a role in the course of arthritis. However, little data is available on the possible relationship between RA and VDR gene polymorphisms. In this study, the frequency of BsmI polymorphism genotypes were compared with that found in other countries. In this study, 64 RA patients and 40 healthy controls were tested for VDR gene BsmI polymorphism genotypes. Frequencies of B and b alleles were associated with markers of bone metabolism and RA. Among control subjects, the frequency of the BB genotype is relatively high (27.5%). In RA with secondary osteopenia/osteoporosis the BB genotype was more rare, the bb was more common than in control subjects. Markers of bone metabolism were associated with the B allele. RA patients carrying the B allele had lower BMD and increased bone loss over 1 year. The B allele was also correlated with increased osteoclast and osteoblast function, as determined by the assessment of biochemical markers of bone metabolism. Rheumatoid factor titer, which is an independent marker for disease progression in RA, was higher in bb patients. Our data suggest, that the imbalance in B and b allele expression may be involved in the pathogenesis of RA-associated osteoporosis. The possible involvement of vitamin D and VDR gene polymorphisms in the development and progression of RA needs further elucidation.

Adult↗
PubMed2002

[Association between apolipoprotein E gene polymorphism and the patients with persistent vegetative state in the Chinese].

We studied the relationship between apolipoprotein E gene polymorphism and persistent vegetative state (PVS) to explore the genetics background of PVS, and evaluated the effect of ApoE gene polymorphism on lipid levels in plasma. The ApoE genotype of fifty-six patients with PVS and fifty-three controls were determined by PCR and restriction fragment length polymorphism (PCR-RFLP). Plasma lipid levels were measured by using routine methods. Results demonstrated that there were five genotypes in the two groups: E3/3, E3/4, E2/2, E2/3 and E2/4. The genotype frequencies of ApoE gene in PVS were 21(37.5%), 26(46.4%), 2 (3.6%), 5(8.9%), 2(3.6%) and that in control were 37(69.8%), 7(13.2%), 2(3.8%) 5(9.4%), 2(3.8%) respectively. We compared the genotype frequencies between the two groups and found there was a significantly increase in E3/4(chi 2 = 14.236, P < 0.001) and decrease in E3/3(chi 2 = 5.348, P < 0.05). epsilon 2, epsilon 3 and epsilon 4 allele frequencies of ApoE were 11(9.8%), 73(65.2%), 28(25%) in PVS and were 11 (10.4%), 86(81.1%), 9(8.5%) in control respectively. Allele frequencies, significantly increased in epsilon 4 (chi 2 = 10.533, P < 0.001) and decreased in epsilon 3 (chi 2 = 7.022, P < 0.01). We also found that E3/4, E2/4 genotype and epsilon 4 allele can largely increase total cholesterol (TC) and lower density lipoprotein cholesterol (LDL-C) levels in plasma, and epsilon 2 alleles also can largely increase LDL-C levels inplasma. Our finding indicates that the ApoE gene polymorphism may be in association with the PVS, and may be a factor in the genetic susceptibility to PVS in Chinese; Genotype and alleles of ApoE in PVS can affect the lipid levels in plasma.

Adolescent↗
PubMedDate not supplied

Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.

Posttransplantation erythrocytosis (PE) is a frequent problem in renal transplant patients. The pathogenesis and mechanisms of both the problem and therapy strategy are unknown. Since ACE and angiotensin 2 receptor inhibitors have been used to successfully manage PE, we speculated a relation between gene polymorphisms and this complication. Ninety-six ( 30 women, 66 men, age 34.4 +/- 11.0 years) renal transplant patients evaluated retrospectively, for gene polymorphisms of ACE, angiotensinogen, angiotensin 1 and 2 receptors (ATR1 and ATR2), as well as endothelial nitric oxide synthase (ecNOS). They were divided into two groups; patients with versus without PE, which was defined as >15 g/dL hemoglobin levels during the first year after renal transplantation. PE was found to be significantly more prevalent among D/D than I/I gene polymorphism of ACE genes (P <.04). The distribution of D/D, I/D, and I/I polymorphisms were 39.1%, 45.9%, and 7.6%, respectively. There was no difference between D/D and I/D polymorphisms. Comparing the I/D and I/I polymorphisms showed PE to be statistically more prevalent in the I/D polymorphism (P <.01). Logistic regression analysis revealed that D/D and I/D polymorphisms were significant risk factors for PE (P <.05, RR = 7.714 and P <.03, RR = 10.199, respectively). While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.

Adult↗
PubMed1997

Vitamin D receptor gene polymorphisms, bone turnover, and rates of bone loss in older African-American women.

Bone mineral density (BMD) is under genetic control. Some studies in Caucasian and Asian women suggest that polymorphisms in the vitamin D receptor (VDR) gene are associated with BMD and the rate of postmenopausal bone loss. We determined if similar associations exist in 101 African-American women aged 65 years and older (71 +/- 5 years, mean +/- SD). We also examined the relation between VDR genotype and fractional 45Ca absorption and markers of bone formation (osteocalcin) and resorption (N-telopeptides) in these women. BMD was measured at the proximal femur and whole body at baseline and after 1.9 +/- 0.4 years (femur only) on a Hologic QDR-2000 densitometer using dual-energy X-ray absorptiometry. Calcaneal BMD was measured with single x-ray absorptiometry. VDR gene polymorphisms were defined by the endonucleases BsmI, ApaI, and TaqI. These polymorphisms were not associated with BMD at any skeletal site or with markers of bone turnover. There was a significant interaction between age and VDR genotype where the oldest women (> 70 years) with the TT genotype experienced greater hip bone loss than women with the TT genotype (-2.1%/year vs. -0.4%/year, respectively), whereas heterozygous women experienced an intermediate rate of bone loss (-1.3%/year). Women homozygous for the B allele had 14% lower fractional 45Ca absorption compared with women homozygous for the b allele, although this difference was not statistically significant (p = 0.08). We conclude that VDR gene polymorphisms are not associated with BMD or indices of bone turnover in this population of older African-American women. However, DNA sequence variation in the VDR gene or a nearby locus may influence intestinal calcium transport and the rate of postmenopausal bone loss in African-American women.

Absorption↗
PubMed2004

[Potential effect of tumor necrosis factor-alpha and its receptor II gene polymorphisms on the pathogenesis of coal worker's pneumoconiosis].

OBJECTIVE: To approach the effect of tumor necrosis factor-alpha (TNF-alpha) and tumor necrosis factor receptor II (TNFRII) gene polymorphisms on genetic susceptibility of coal worker's pneumoconiosis and their relationship with pulmonary fibrosis. METHODS: Two hundred and thirty-four cases of coal worker's pneumoconiosis (CWP) and four hundred and forty coal mine workers (controls) were selected, and the cases of CWP were divided into three subgroups based on the various stages of I, II and III. 3 ml peripheral vein blood was drawn from every subject. Using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) techniques, TNF-alpha and TNFRII gene polymorphisms were analyzed. RESULTS: In both group matching and 1:1 paired matching, there was no significant difference between CWP workers and controls in distribution frequencies of G/A + A/A (TNF-alpha -308) and T/G + G/G (TNFRII 196) genotypes. The distribution frequency of G/A + A/A genotype in CWP with stage III (20.00%) was higher than those in control (10.91%), and CWP cases with stage I (10.34%) and II (7.50%) respectively. The risk of CWP with stage III in those with G/A + A/A genotype was 2-fold higher than with G/G genotype (OR = 3.00, 95% CI: 0.35 approximately 25.84) for 1:1 paired matching. CONCLUSIONS: TNF-alpha and TNFRII gene polymorphisms does not play an important role in susceptibility to CWP of Han race. TNF-alpha gene promoter polymorphisms might be related with the degree of severe pulmonary fibrosis in CWP.

Aged↗
PubMed2006

Lack of association of interleukin-6 and interleukin-8 gene polymorphisms in Chinese patients with systemic lupus erythematosus.

The purpose of this study was to determine whether interleukin (IL)-6 and IL-8 gene polymorphisms were markers of susceptibility to or severity of systemic lupus erythematosus (SLE) in Chinese patients. The study included 150 Chinese patients with SLE. A total of 130 unrelated healthy individuals living in central Taiwan served as control subjects. Polymorphisms of the IL-6 and IL-8 gene were typed from genomic DNA. The genotypes, allelic frequencies, and carriage rates were compared between SLE patients and control subjects. The relationship between allelic frequencies and clinical manifestations of 135 SLE patients was evaluated. There were no statistically significant differences in IL-6 and IL-8 gene polymorphisms between the SLE and control groups (chi-squared test, P=0.53, chi(2)=1.27 and P=0.44, chi(2)=1.62, respectively). In addition, there was no significant association between the two groups in allelic frequency of IL-6 and IL-8 (P=0.89 and P=0.26, respectively). We also did not detect any association between the IL-6 and IL-8 genotype and clinical or laboratory profiles in SLE patients. The results suggest that the IL-6 and IL-8 gene polymorphisms are not related to SLE.

Adolescent↗
PubMed2001

Albuminuria and the renin-angiotensin system gene polymorphisms in type-2-diabetic and in normoglycemic hypertensive Chinese.

BACKGROUND: Albuminuria predicts nephropathy-related mortality in Caucasian and Chinese populations. The involvement of renin-angiotensin system (RAS) gene polymorphisms in the pathogenesis of nephropathy has been described predominantly in Caucasian populations. We have previously suggested that the angiotensinogen 235T variant may be associated with nephropathy in diabetic Chinese. PATIENTS AND METHODS: To validate these findings and extend them to include non-diabetic nephropathy, we examined the association of albuminuria and gene polymorphisms of the angiotensinogen M235T, angiotensin-converting enzyme insertion/deletion and angiotensin II type I receptor A1166C polymorphisms in 614 Chinese subjects (66% type 2 diabetic, 16% normoglycemic hypertensives and 18% controls). RESULTS: Obesity and higher blood pressure were associated with albuminuria in both diabetes and normoglycemic hypertension. In the diabetic group, albuminuria was also associated with increased insulin resistance and glycemic indices, duration of diabetes and adverse lipid profiles. Only the ACE gene polymorphism showed evidence of association with albuminuria, with the D allele being less frequent in the normoglycemic hypertensive patients with albuminuria (25.0%) than the controls (41.4%) or normoalbuminuric group (39.6%) and in those hypertensives at increased risk (albumin-to-creatinine ratio > 5.6 mg/mmol) of end-stage renal disease than those at lower risk (all p < 0.05), but not in the diabetic group. The D allele was also less prevalent in the total (31.9%) and normoalbuminuric (32.2%) diabetic groups than in the controls (p < 0.05). CONCLUSION: In this cohort of Chinese subjects, the ACE gene polymorphism D allele was less frequent in normoglycemic hypertensive patients with albuminuria and in type 2 diabetes.

Adult↗
PubMed1999

Association of bone dimensions with a parathyroid hormone gene polymorphism in women.

We have recently shown that bone radiogrammetric dimensions are associated with vitamin D receptor gene polymorphism. Since parathyroid hormone (PTH) plays a central role in maintaining calcium homeostasis and in bone remodeling, we investigated whether bone radiogrammetric dimensions are associated with a PTH gene polymorphism in 91 healthy Caucasian women, who were premenopausal at entry into the study. These women had assessments of bone by radiogrammetry every five years for a median period of 20 years (range 4-27). DNA was extracted from white blood cells. A segment of the PTH gene with a polymorphism at a BstBI restriction site was amplified by polymerase chain reaction. Diameter, cortical thickness and cross-sectional area at standard sites of the metacarpals, radius and femur were measured with radiogrammetry. Higher metacarpal diameter and cross-sectional cortical area, and a slower decrease in radial cortical area with age, were associated with the absence of the BstBI restriction site of the PTH gene. PTH gene polymorphism accounts for about 7-9% of the total variances of bone dimensional variables. These findings suggest that the dimensions of long bones are influenced by allelic variations in the PTH gene or in genes nearby.

Adult↗
PubMed2001

Different NK cell surface phenotypes defined by the DX9 antibody are due to KIR3DL1 gene polymorphism.

KIR3DL1 and KIR3DL2 are NK cell receptors for polymorphic HLA-B and -A determinants. The proportion of NK cells that bind anti-KIR3DL1-specific Ab DX9 and their level of binding vary between individuals. To determine whether these differences are due to KIR polymorphism, we assessed KIR3D gene diversity in unrelated individuals and families. Both KIR3DL1 and KIR3DL2 are highly polymorphic genes, with KIR3DS1 segregating like an allele of KIR3DL1. A KIR haplotype lacking KIR3DL1 and KIR3DS1 was defined. The two KIR3DL1 alleles of a heterozygous donor were expressed by different, but overlapping, subsets of NK cell clones. Sequence variation in KIR3DL1 and KIR3DL2 appear distinct; recombination is more evident in KIR3DL1, and point mutation is more evident in KIR3DL2. The KIR3DL1 genotype correlates well with levels of DX9 binding by NK cells, but not with the frequency of DX9-binding cells. Different KIR3DL1 alleles determine high, low, and no binding of DX9 Ab. Consequently, heterozygotes for high and low binding KIR3DL1 alleles have distinct subpopulations of NK cells that bind DX9 at high and low levels, giving characteristic bimodal distributions in flow cytometry. The Z27 Ab gave binding patterns similar to those of DX9. Four KIR3DL1 alleles producing high DX9 binding phenotypes were distinguished from four alleles producing low or no binding phenotypes by substitution at one or more of four positions in the encoded protein: 182 and 283 in the extracellular Ig-like domains, 320 in the transmembrane region, and 373 in the cytoplasmic tail.

Alleles↗
PubMed2001

Relationship between angiotensin-converting enzyme gene polymorphism and insulin resistance in never-treated hypertensive patients.

The association between angiotensin-converting enzyme (ACE) gene polymorphism and insulin resistance (IR) in hypertensive subjects remains controversial. Thus, we evaluated the possible association between IR and ACE gene polymorphism in a group of hypertensive, never-treated patients compared with that in a normotensive control group. We enrolled 200 (114 men and 86 women; age, 45.5 +/- 4.7 yr) hypertensive patients and 96 (54 men and 42 women; age, 44.0 +/- 4.7 yr) normotensive subjects. A double PCR assay was used to identify ACE genotypes. We determined fasting glucose and insulin by the glucose oxidase method and using a standard RIA technique. IR was estimated using the homeostasis model assessment (HOMA(IR)). Both fasting glucose (5.0 +/- 0.3 vs. 4.7 +/- 0.3 mmol/L; P < 0.0001), insulin levels (12.3 +/- 4.7 vs. 4.9 +/- 1.5 muU/mL; P < 0.0001), and HOMA(IR) (2.7 +/- 1.1 vs. 1.1 +/- 0.3; P < 0.0001) were significantly higher in hypertensive patients than in the normotensive control group. When we subdivided hypertensive patients according to ACE genotype, we observed that fasting insulin and HOMA(IR) were 16.3 +/- 3.3 and 3.6 +/- 0.8 in the DD genotype, 9.4 +/- 3.1 and 2.1 +/- 0.7 in the ID genotype, and 8.3 +/- 2.8 and 1.9 +/- 0.7 muU/mL in the II group (P < 0.0001, by ANOVA). No significant differences were observed in the normotensive control group. In conclusion, we extended previous data regarding the relationship of hypertension and IR by demonstrating a dependence of this relationship upon the ACE gene polymorphism.

Adult↗
PubMed2005

Association of the -159 CD14 gene polymorphism and lack of association of the -308 TNFA and Q551R IL-4RA polymorphisms with severe chronic periodontitis in Swedish Caucasians.

BACKGROUND: Severe forms of periodontitis are suggested to have a genetic basis. OBJECTIVE: The aim of the present investigation was to study the association of gene polymorphisms related to some immune regulation components (G-308A TNFA, Q551R IL-4RA and C-159T CD14) with severe chronic periodontitis. MATERIALS AND METHODS: Sixty patients (aged 36-74 years; mean 54.5+/-8.5) with severe and generalized chronic periodontitis were included. The patients exhibited bone loss >50% at all teeth. Thirty-nine periodontally healthy subjects between 35 and 78 years of age (mean 51.0+/-10.9) were recruited as controls. DNA was isolated from peripheral blood cells and genotyping was performed by combination of PCR and restriction endonuclease mapping. RESULTS: While gene polymorphisms for TNFA and IL-4RA did not show any association with severe chronic periodontitis, the analysis of the -159 CD14 gene polymorphism revealed significant differences between test and control groups. The proportion of subjects that exhibited the TT genotype was significantly smaller in the group with severe periodontitis than in periodontal healthy group (p=0.028; Fisher's exact test). The C allele carriage was 90% in the periodontitis group and significantly higher than in the healthy control group (72%). CONCLUSION: It is suggested that the -159 CD14 gene polymorphism is associated with chronic periodontitis in Caucasian subjects of a north European origin.

Adult↗
PubMed2001

Genotype distribution of estrogen receptor-alpha gene polymorphisms in Italian women with surgical uterine leiomyomas.

OBJECTIVE: To explore a possible association between estrogen receptor-alpha (ER-alpha) gene polymorphisms and development of uterine leiomyomas. DESIGN: Case-control study. SETTING: University teaching hospital. PATIENT(S): 119 women with clinically and surgically diagnosed uterine leiomyomas. INTERVENTION(S): Therapeutic hysterectomy. MAIN OUTCOME MEASURE(S): Frequency and distribution of ER-alpha gene polymorphisms. RESULT(S): No statistically significant differences between controls and patients in the allele frequency and genotype distribution were found when Pvu II and Xba I restriction polymorphism sites were analyzed separately. When the two ER-alpha gene polymorphisms were analyzed in combination, five major genotypes were recognized in controls or patients; the frequency differed slightly but not significantly between groups. CONCLUSION(S): The Pvu II and Xba I polymorphisms in the ER-alpha gene do not produce different risks of developing uterine leiomyomas.

Alleles↗
PubMedDate not supplied

[Role of transforming growth factor beta-1 gene polymorphisms in the development of chronic allograft nephropathy in renal transplant recipients].

BACKGROUND: Chronic allograft nephropathy (CAN) is the main cause of graft loss after the first year of transplantation, and renal biopsies show a predominance of fibrotic lesions. Human transforming growth factor beta-1 (TGF-beta 1) is the principal profibrogenetic cytokine which has been recently implicated in the development of CAN. Seven TGF-beta 1 gene polymorphisms have been recently described and some of them have been related to the development of several diseases. AIM: To analyse the relationship between TGF-beta 1 gene polymorphisms and the development of CAN in a group of renal transplant patients with a long-term follow-up. METHODS: A restriction enzyme-based method for TGF-beta 1 genotyping was used to detect four TGF-beta 1 gene polymorphisms in codon 10, 25 and 5'-flanking region (-800 and -509 positions). A retrospective case-control study were performed on sixty renal transplant recipients with 8 years of post-transplant, 22 of them with CAN (cases) and 38 with normal graft function (controls). We studied 73 subjects to analyse the distribution of the genotypes in the area. RESULTS: The genotype frequencies were similar in the study and control group. The presence of chronic allograft nephropathy was statistically associated with the combination Pro/Pro10 TT509 polymorphism in the TGF-beta 1 gene, and these patients develop chronic rejection more quickly than the rest of the patients. Chronic allograft nephropathy was also associated with delta age recipient-donor, with older donors being a significant risk factor for chronic nephropathy. The logistic regression analysis confirmed the independent role of TT509 Pro/Pro10 TGF-beta 1 polymorphism with a Odd Ratio of 5.8 (1.14-29.7) in chronic nephropathy being the delta age recipient-donor a confounder factor but not an effect modifier. The rest of the TGF-beta 1 gene polymorphisms and the classic risk factors were not associated with the development of chronic allograft nephropathy. CONCLUSIONS: These data suggest a leading role for TGF-beta 1 gene polymorphisms (TT509 Pro/Pro10) in the development of chronic allograft nephropathy. The identification of this genetic predisposition to chronic allograft rejection could play a decisive role in the prevention of this common pathology.

Adolescent↗
PubMed2006

Association between vitamin D receptor, CCR5, TNF-alpha and TNF-beta gene polymorphisms and HBV infection and severity of liver disease.

BACKGROUND/AIMS: 1,25-dihydroxyvitamin-D is involved in immunomodulation. Expression of vitamin-D receptors in hepatocytes suggests its role in hepatocellular injury. We studied the association of single nucleotide polymorphisms in genes involved in immunoregulatory functions of vitamin-D with susceptibility, severity and persistence of HBV infection. METHODS: Five polymorphisms in VDR, CCR5, TNF-alpha and TNF-beta were studied in 214 chronic hepatitis B patients and 408 controls. Clinical parameters were compared between mild or severe liver disease patients. RESULTS: The frequency of heterozygosity of CCR5Delta32 was higher in chronic hepatitis B patients than controls (4.2 vs 0.73%, P=0.005). Frequency of VDR Apa1 a/a and TNF-beta A/A was higher in severe compared with mild liver disease based on HAI (19.3 vs 5.4%, P=0.003 and 18.1 vs 3.8%, P=0.001, respectively) and fibrosis score (23.7 vs 3.6%, P<0.001 and 18.1 vs 4.4%, P=0.002, respectively). The frequency of VDR a/a allele was also higher in patients with higher HBV DNA (11 vs 2.6%, P=0.002). Apa1 and Taq1 markers in VDR are in linkage-disequilibrium and 'at'haplotype is associated with severe liver disease. CONCLUSIONS: CCR5Delta32 heterozygosity was associated with susceptibility and VDR a/a, TNF-beta A/A with severity of HBV-related liver disease and VDR a/a allele with higher viral load. These results affirm an important role of immunogenetic factors in the outcome of chronic HBV infection.

Adult↗
PubMed2003

Manganese superoxide dismutase and cytochrome P450 1A1 genes polymorphisms in rheumatoid arthritis in Taiwan.

To investigate the role of manganese superoxide dismutase (MnSOD) and cytochrome P450 1A1 (CYP1A1) gene polymorphisms in the pathogenesis of rheumatoid arthritis (RA) in Taiwan, MnSOD and CYP1A1 genes polymorphisms were determined by he polymerase chain reaction/restriction fragment length polymorphism method in 112 patients with RA and 96 controls. There were no significant differences in the genotype, allele, and phenotype frequencies of MnSOD Ala-9Val (C1183T) polymorphisms between patients with RA and controls. The polymorphism of MnSOD 5777T, threonine at the 58th amino acid, cannot be found in RA patients and controls in Taiwan. The allele and phenotype frequencies of CYP1A1 4887A and genotype frequency of CYP1A1 4887C/A were lower in RA patients than in controls, whereas the significant difference was lost after correction. MnSOD C1183T polymorphisms were not associated with the clinical manifestations of RA. However, RA patients with CYP1A1 4889G/G have significantly higher frequency of Sjögren's syndrome, especially in the presence of MnSOD 1183T/T. Patients with CYP1A1 4887C/A also have a trend to develop Sjögren's syndrome in the presence of MnSOD 1183T/T. The linkage disequilibrium between CYP1A1 4889G and CYP1A1 6235C can be found in this study. MnSOD gene polymorphisms are not related to susceptibility to RA in Taiwan, whereas individuals with CYP1A1 4887A tend to avoid the development of RA. Moreover, CYP1A1 4889G/G and 4887C/A may play a role in the development of Sjögren's syndrome, especially in the presence of MnSOD 1183T/T. These findings are preliminary. A further confirmation study is necessary.

Arthritis, Rheumatoid↗
PubMed1995

Association of ACE gene polymorphisms with coronary artery disease in a northern area of Japan.

The insertion/deletion DNA polymorphism of the gene coding human angiotensin converting enzyme (ACE) was examined in 109 patients with coronary artery disease (CAD) and 93 non-coronary subjects (NCS) living in a northern part of Japan. The presence of risk factors including age, hypertension, hypercholesterolemia, tobacco use, diabetes mellitus and hyperuricemia were also examined. An insertion (I) / deletion (D) polymorphism of the ACE gene was determined by the polymerase chain reaction with oligonucleotide primers encompassing the polymorphic region in intron 16. The template DNA was isolated from peripheral blood leukocytes of patients. The frequency of the D-allele in NCS was 0.27, significantly lower than that reported in Caucasians or in Japanese living in the Osaka area. The frequency of the D-allele in patients with myocardial infarction (MI) and angina pectoris was 0.39 and was higher than that in NCS. The frequencies of genotypes DD, ID, and II were 17.8, 43.3 and 38.9%, respectively, in CAD except in young patients (below 40 years of age) with MI and AP groups, and 6.5, 40.9 and 52.7%, respectively in NCS (p < 0.05 between CAD and NCS). Young MI showed similar frequencies in ACE gene polymorphisms to those in NCS, a pattern which differed from that seen in subjects with CAD (p < 0.05). The numbers of risk factors did not alter the frequency of ACE gene genotype among patients with CAD, however, in normotensives, the odds ratio of DD-genotype was significantly increased to 3.4. Accordingly, ACE gene polymorphism may be associated with morbidity from CAD in Japanese living in northern Japan as has been noted in Caucasians, despite the lower frequencies of the D-allele in the Japanese population.

Adult↗